European Journal of Human Genetics - Table of Contents alert Volume 23 Issue 3

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TABLE OF CONTENTS Volume 23, Issue 3 (March 2015) In this issue Letter Articles Short Reports Corrigendum Also new AOP Sign up for e-alerts Recommend to your library Web feed Subscribe Letter Top Birthday of a syndrome: 50 years anniversary of Smith–Lemli–Opitz Syndrome Martina Witsch-Baumgartner and Barbara Lanthaler Eur J Hum Genet 2015 23: 277-278; advance online publication, May 14, 2014; 10.1038/ejhg.2014.87 Full Text Articles Top To disclose, or not to disclose? Context mattersEJHGOPEN Vasiliki Rahimzadeh, Denise Avard, Karine Sénécal, Bartha Maria Knoppers and Daniel Sinnett Eur J Hum Genet 2015 23: 279-284; advance online publication, June 11, 2014; 10.1038/ejhg.2014.108 Abstract | Full Text Willingness to pay for genetic testing for inherited retinal disease Sandy Tubeuf, Thomas A Willis, Barbara Potrata, Hilary Grant, Matthew J Allsop, Mushtaq Ahmed, Jenny Hewison and Martin McKibbin Eur J Hum Genet 2015 23: 285-291; advance online publication, June 11, 2014; 10.1038/ejhg.2014.111 Abstract | Full Text Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases Alain Verloes, Nataliya Di Donato, Julien Masliah-Planchon, Marjolijn Jongmans, Omar A Abdul-Raman, Beate Albrecht, Judith Allanson, Han Brunner, Debora Bertola, Nicolas Chassaing, Albert David, Koen Devriendt, Pirayeh Eftekhari, Valérie Drouin-Garraud, Francesca Faravelli, Laurence Faivre, Fabienne Giuliano, Leina Guion Almeida, Jorge Juncos, Marlies Kempers, Hatice Koçak Eker, Didier Lacombe, Angela Lin, Grazia Mancini, Daniela Melis, Charles Marques Lourenço, Victoria Mok Siu, Gilles Morin, Marjan Nezarati, Malgorzata J M Nowaczyk, Jeanette C Ramer, Sara Osimani, Nicole Philip, Mary Ella Pierpont, Vincent Procaccio, Zeichi-Seide Roseli, Massimiliano Rossi, Cristina Rusu, Yves Sznajer, Ludivine Templin, Vera Uliana, Mirjam Klaus, Bregje Van Bon, Conny Van Ravenswaaij, Bruce Wainer, Andrew E Fry, Andreas Rump, Alexander Hoischen, Séverine Drunat, Jean-Baptiste Rivière, William B Dobyns and Daniela T Pilz Eur J Hum Genet 2015 23: 292-301; advance online publication, July 23, 2014; 10.1038/ejhg.2014.95 Abstract | Full Text Linking genotypes database with locus-specific database and genotype–phenotype correlation in phenylketonuria Sarah Wettstein, Jarl Underhaug, Belen Perez, Brian D Marsden, Wyatt W Yue, Aurora Martinez and Nenad Blau Eur J Hum Genet 2015 23: 302-309; advance online publication, June 18, 2014; 10.1038/ejhg.2014.114 Abstract | Full Text Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders Almundher Al-Maawali, Lucie Dupuis, Susan Blaser, Elise Heon, Mark Tarnopolsky, Fathiya Al-Murshedi, Christian R Marshall, Tara Paton, Stephen W Scherer, for the FORGE Canada Consortium, Jeroen Roelofsen, André BP van Kuilenburg and Roberto Mendoza-Londono Eur J Hum Genet 2015 23: 310-316; advance online publication, June 25, 2014; 10.1038/ejhg.2014.112 Abstract | Full Text Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome Lisenka ELM Vissers, Monica Bonetti, Jeroen Paardekooper Overman, Willy M Nillesen, Suzanna G M Frints, Joep de Ligt, Giuseppe Zampino, Ana Justino, José C Machado, Marga Schepens, Han G Brunner, Joris A Veltman, Hans Scheffer, Piet Gros, José L Costa, Marco Tartaglia, Ineke van der Burgt, Helger G Yntema and Jeroen den Hertog Eur J Hum Genet 2015 23: 317-324; advance online publication, June 18, 2014; 10.1038/ejhg.2014.115 Abstract | Full Text Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion Sanna Matilainen, Pirjo Isohanni, Liliya Euro, Tuula Lönnqvist, Helena Pihko, Tero Kivelä, Sakari Knuutila and Anu Suomalainen Eur J Hum Genet 2015 23: 325-330; advance online publication, July 2, 2014; 10.1038/ejhg.2014.128 Abstract | Full Text A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability Farzaneh Larti, Kimia Kahrizi, Luciana Musante, Hao Hu, Elahe Papari, Zohreh Fattahi, Niloofar Bazazzadegan, Zhe Liu, Mehdi Banan, Masoud Garshasbi, Thomas F Wienker, H Hilger Ropers, Niels Galjart and Hossein Najmabadi Eur J Hum Genet 2015 23: 331-336; advance online publication, February 26, 2014; 10.1038/ejhg.2014.13 Abstract | Full Text Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis Alex Choi, Richard Lao, Paul Ling-Fung Tang, Eunice Wan, Wasima Mayer, Tanya Bardakjian, Gary M Shaw, Pui-yan Kwok, Adele Schneider and Anne Slavotinek Eur J Hum Genet 2015 23: 337-341; advance online publication, June 18, 2014; 10.1038/ejhg.2014.119 Abstract | Full Text Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population Claudia Gonzaga-Jauregui, Candace N Gamble, Bo Yuan, Samantha Penney, Shalini Jhangiani, Donna M Muzny, Richard A Gibbs, James R Lupski and Jacqueline T Hecht Eur J Hum Genet 2015 23: 342-346; advance online publication, July 2, 2014; 10.1038/ejhg.2014.107 Abstract | Full Text Comprehensive massive parallel DNA sequencing strategy for the genetic diagnosis of the neuro-cardio-facio-cutaneous syndromes Ana Justino, Patrícia Dias, Maria João Pina, Sónia Sousa, Luís Cirnes, Ana Berta Sousa, José Carlos Machado and José Luis Costa Eur J Hum Genet 2015 23: 347-353; advance online publication, June 4, 2014; 10.1038/ejhg.2014.97 Abstract | Full Text Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform Erika Della Mina, Roberto Ciccone, Francesca Brustia, Baran Bayindir, Ivan Limongelli, Annalisa Vetro, Maria Iascone, Laura Pezzoli, Riccardo Bellazzi, Gianfranco Perotti, Valentina De Giorgis, Simona Lunghi, Giangennaro Coppola, Simona Orcesi, Pietro Merli, Salvatore Savasta, Pierangelo Veggiotti and Orsetta Zuffardi Eur J Hum Genet 2015 23: 354-362; advance online publication, May 21, 2014; 10.1038/ejhg.2014.92 Abstract | Full Text Role of TNF block genetic variants in HIV-associated sensory neuropathy in black Southern Africans Antonia L Wadley, Liesl M Hendry, Peter R Kamerman, Constance SN Chew, Patricia Price, Catherine L Cherry and Zané Lombard Eur J Hum Genet 2015 23: 363-368; advance online publication, June 4, 2014; 10.1038/ejhg.2014.104 Abstract | Full Text Improved phylogenetic resolution and rapid diversification of Y-chromosome haplogroup K-M526 in Southeast Asia Tatiana M Karafet, Fernando L Mendez, Herawati Sudoyo, J Stephen Lansing and Michael F Hammer Eur J Hum Genet 2015 23: 369-373; advance online publication, June 4, 2014; 10.1038/ejhg.2014.106 Abstract | Full Text A genome-wide association study identifies PLCL2 and AP3D1-DOT1L-SF3A2 as new susceptibility loci for myocardial infarction in Japanese Megumi Hirokawa, Hiroyuki Morita, Tomoyuki Tajima, Atsushi Takahashi, Kyota Ashikawa, Fuyuki Miya, Daichi Shigemizu, Kouichi Ozaki, Yasuhiko Sakata, Daisaku Nakatani, Shinichiro Suna, Yasushi Imai, Toshihiro Tanaka, Tatsuhiko Tsunoda, Koichi Matsuda, Takashi Kadowaki, Yusuke Nakamura, Ryozo Nagai, Issei Komuro and Michiaki Kubo Eur J Hum Genet 2015 23: 374-380; advance online publication, June 11, 2014; 10.1038/ejhg.2014.110 Abstract | Full Text Identifying genetic risk variants for coronary heart disease in familial hypercholesterolemia: an extreme genetics approach Jorie Versmissen, Daniëlla M Oosterveer, Mojgan Yazdanpanah, Abbas Dehghan, Hilma Hólm, Jeanette Erdman, Yurii S Aulchenko, Gudmar Thorleifsson, Heribert Schunkert, Roeland Huijgen, Ranitha Vongpromek, André G Uitterlinden, Joep C Defesche, Cornelia M van Duijn, Monique Mulder, Tony Dadd, Hróbjartur D Karlsson, Jose Ordovas, Iris Kindt, Amelia Jarman, Albert Hofman, Leonie van Vark-van der Zee, Adriana C Blommesteijn-Touw, Jaap Kwekkeboom, Anho H Liem, Frans J van der Ouderaa, Sebastiano Calandra, Stefano Bertolini, Maurizio Averna, Gisle Langslet, Leiv Ose, Emilio Ros, Fátima Almagro, Peter W de Leeuw, Fernando Civeira, Luis Masana, Xavier Pintó, Maarten L Simoons, Arend FL Schinkel, Martin R Green, Aeilko H Zwinderman, Keith J Johnson, Arne Schaefer, Andrew Neil, Jacqueline CM Witteman, Steve E Humphries, John JP Kastelein and Eric JG Sijbrands Eur J Hum Genet 2015 23: 381-387; advance online publication, June 11, 2014; 10.1038/ejhg.2014.101 Abstract | Full Text Sandwich corrected standard errors in family-based genome-wide association studies Camelia C Minică, Conor V Dolan, Maarten M D Kampert, Dorret I Boomsma and Jacqueline M Vink Eur J Hum Genet 2015 23: 388-394; advance online publication, June 11, 2014; 10.1038/ejhg.2014.94 Abstract | Full Text Improving accuracy of rare variant imputation with a two-step imputation approach Eskil Kreiner-Møller, Carolina Medina-Gomez, André G Uitterlinden, Fernando Rivadeneira and Karol Estrada Eur J Hum Genet 2015 23: 395-400; advance online publication, June 18, 2014; 10.1038/ejhg.2014.91 Abstract | Full Text Short Reports Top An exome sequencing strategy to diagnose lethal autosomal recessive disordersEJHGOPEN Sian Ellard, Emma Kivuva, Peter Turnpenny, Karen Stals, Matthew Johnson, Weijia Xie, Richard Caswell and Hana Lango Allen Eur J Hum Genet 2015 23: 401-404; advance online publication, June 25, 2014; 10.1038/ejhg.2014.120 Abstract | Full Text Impact on parents of HLA-DQ2/DQ8 genotyping in healthy children from coeliac families Margreet M S Wessels, Sabine L Vriezinga, Sybille Koletzko, Katharina Werkstetter, Gemma Castillejo-De Villasante, Raanan Shamir, Corina Hartman, Hein Putter, Sylvia M van der Pal, Cisca Wijmenga, Enzo Bravi and M Luisa Mearin on behalf of the PreventCD study group Eur J Hum Genet 2015 23: 405-408; advance online publication, June 11, 2014; 10.1038/ejhg.2014.113 Abstract | Full Text Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP) - pure coincidence? Dennis Döcker, Max Schubach, Moritz Menzel, Christiane Spaich, Heinz-Dieter Gabriel, Martin Zenker, Deborah Bartholdi and Saskia Biskup Eur J Hum Genet 2015 23: 409-412; advance online publication, June 18, 2014; 10.1038/ejhg.2014.118 Abstract | Full Text Use of stereotypical mutational motifs to define resolution limits for the ultra-deep resequencing of mitochondrial DNAEJHGOPEN Kristian Gardner, Brendan AI Payne, Rita Horvath and Patrick F Chinnery Eur J Hum Genet 2015 23: 413-415; advance online publication, June 4, 2014; 10.1038/ejhg.2014.96 Abstract | Full Text Corrigendum Top A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability Farzaneh Larti, Kimia Kahrizi, Luciana Musante, Hao Hu, Elahe Papari, Zohreh Fattahi, Niloofar Bazazzadegan, Zhe Liu, Mehdi Banan, Masoud Garshasbi, Thomas F Wienker, H Hilger Ropers, Niels Galjart and Hossein Najmabadi Eur J Hum Genet 2015 23: 416; 10.1038/ejhg.2014.152 Full Text Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. 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